新疆维吾尔族健康人群细胞色素P450基因多态性研究

目的了解CYP2C9基因多态性在新疆维吾尔族健康人群中的分布以及与其他不同民族之间的差异。方法采用序列特异性引物聚合酶链反应和限制性内切酶反应(PCR-RFLP)技术对197名乌鲁木齐地区维吾尔族健康个体CYP2C9*2和CYP2C9*3位点进行了检测,计算其基因型和等位基因频率,并与国外多个民族CYP2C9基因多态性分布进行比较。结果国内首次在新疆维吾尔族健康人群中发现CYP2C9*2等位基因,新疆维吾尔族健康人群中共检测到3种等位基因:CYP2C9*1、CYP2C9*2、CYP2C9*3,等位基因频率分别为80%、3%、17%。新疆维吾尔族健康人群CYP2C9共检测到5种基因型,以CYP2C9*1*1常见,基因型频率为77%,其次为CYP2C9*3*3,基因型频率为15%。CYP2C9*1*2、CYP2C9*1*3和CYP2C9*2*2的基因型频率分别为4%、3%和1%。结论新疆维吾尔族CYP2C9基因多态性的分布与欧美人群接近,而与日本、韩国以及国内报道的汉族人群CYP2C9基因多态性分布有较大差异。

The Genetic polymorphism of CYP2C9 in healthy Uygurs in Xinjiang

Objective To investigate the genetic polymorphism of CYP2C9 in healthy Uygurs in Xinjiang Uygur Autonomous Region, and how this differs when compared with other ethnical groups. Methods The polymorphism of CYP2C9 gene in 197 healthy Uygurs was detected using PCR-RFLP method. Frequencies of genotypes and alleles were calculated and compared with those in other populations. Results The CYP2C9*2 was detected for the first time in China. The frequencies of three alleles as found in healthy Uygurs (CYP2C9*1,CYP2C9*2,CYP2C9*3) were 80%, 3% and 17% respectively. Five genotypes were identified in Uygur population. Among these, CYP2C9*1*1 was the most common genotype found in 77% of the time, followed by CYP*3*3 (15%), CYP2C9*1*2 (4%), CYP*1*3 (3%) and CYP2C9*2*2 (1%). Conclusion The distribution of polymorphism of CYP2C9 in the Uygur population is similar to as found in Euro-american populations, but is significantly different from that in Hans as well as Japanese and Southern Korean populations.